Providing answers to common questions we hear from our peers in primary care, as well as the signs and symptoms that may indicate the need for a neurology evaluation.
Primary steps for primary care: Tuberous sclerosis complex (TSC) (7/27/2021) - TSC is an autosomal dominant neurocutaneous disorder affecting one in every 6,000-10,000 people. TSC manifests with multi-organ involvement including the skin, central nervous system, heart, lungs, eyes and kidneys. The most common identified cause is a variant in the tumor suppressor genes TSC1 or TSC2, on chromosomes 9p34 and 16p13, respectively. Abnormalities of these genes result in abnormal proteins, hamartin and tuberin, causing a… … Continue reading Primary steps for primary care: Tuberous sclerosis complex (TSC)
New program aims to improve access to mental health services (7/27/2021) - Disorders of the nervous system frequently include symptoms and comorbid conditions beyond those typically managed by neurologists and neurosurgeons. For example, patients with Dravet syndrome can experience hyperactivity and impulsive behavior, while patients with muscular dystrophy more frequently experience mental health disorders like depression, anxiety and other cognitive impairments. Addressing both the physical and mental health aspects of neurological disorders is vital to ensure… … Continue reading New program aims to improve access to mental health services
Primary steps for primary care: Sleep disorders in epilepsy and cerebral palsy (1/29/2021) - Sleep disorders are common among the general pediatric population, but children with neurologic conditions are more likely to develop certain sleep disorders. Two of the most common pediatric neurologic conditions—epilepsy and cerebral palsy—and their frequently associated sleep disorders are presented here. Recognizing the elements that contribute to sleep disturbances in these unique populations can guide initial evaluation and management. Restoring sleep may not only… … Continue reading Primary steps for primary care: Sleep disorders in epilepsy and cerebral palsy
Primary Steps for Primary Care: Microcephaly (10/21/2020) - Central to a newborn examination is the tracking of growth parameters; head circumference is a key component in that evaluation. Identification of an abnormal head circumference, especially in the context of developmental delays, warrants evaluation by a neurologist and possibly a geneticist. Though it’s a frequently encountered exam finding, microcephaly is a poorly defined condition with a myriad of causes and lack of uniform… … Continue reading Primary Steps for Primary Care: Microcephaly
Neurofibromatosis type 1 – Primary Steps for Primary Care (5/6/2020) - Neurofibromatosis (NF) type 1 is a common genetic disorder, occurring in one out of 2,700 people. It is inherited as an autosomal dominant, fully penetrant genetic disorder, though 50% of new presenters are de novo mutations. The genetic abnormality arises from the neurofibromin gene on chromosome 17 which, when intact, suppresses tumor growth. How is NF1 diagnosed? NF is a primarily a diagnosis based… … Continue reading Neurofibromatosis type 1 – Primary Steps for Primary Care
Arachnoid Cysts – Primary Steps for Primary Care (1/27/2020) - A frequent reason for urgent calls to our neurosurgery clinic is the incidental finding of an arachnoid cyst on a CT or MRI scan of the brain. Often these imaging studies are ordered for headaches, possible seizures, post-concussion symptoms or other neurologic concerns. As the ordering physician, the primary care doctor must determine what role, if any, the cyst is playing in the child’s… … Continue reading Arachnoid Cysts – Primary Steps for Primary Care
Infantile Spasms – Primary Steps for Primary Care (12/4/2019) - A type of severe seizure, infantile spasms require urgent evaluation and treatment. Unfortunately, the diagnosis of infantile spasms is too often delayed because they may be subtle, go unrecognized, or be misdiagnosed as some other less serious condition (i.e., reflux). When associated with an electroencephalography (EEG) pattern of hypsarrhythmia (Figure 1), this is known as West syndrome, a severe form of early onset/infantile epilepsy.… … Continue reading Infantile Spasms – Primary Steps for Primary Care
Torticollis – Primary Steps for Primary Care (10/16/2019) - Torticollis is characterized by a lateral head tilt with the chin rotated in the opposite direction. It can be caused by many conditions, most commonly as a result of congenital asymmetry in the lengths of the sternocleidomastoid (SCM) muscles. Torticollis occurs in approximately 0.3-1.9% of all live births, more frequently in males, and most commonly on the right side. While etiology is unknown, multiple… … Continue reading Torticollis – Primary Steps for Primary Care
Renewed Hope: Novel Treatments for Spinal Muscular Atrophy Improving Outcomes (10/16/2019) - Spinal muscular atrophy (SMA) is a rare autosomal recessive neuromuscular disease that presents as progressive muscle weakness secondary to loss of lower motor neurons in the brainstem and spinal cord. With an incidence of 1 in 10,000 live births, SMA is the most common genetic cause of death in infancy, but new treatments may soon change this poor prognosis. SMA occurs when a child… … Continue reading Renewed Hope: Novel Treatments for Spinal Muscular Atrophy Improving Outcomes
Complementary and Alternative Therapies for Migraine Treatment (10/3/2019) - Migraine is a common reason for referral to pediatric neurology. Very often, lifestyle modifications such as improved sleep, regular exercise, adequate hydration and avoidance of migraine triggers can reduce the frequency of migraines. For some, despite these measures, migraines continue to occur many times per month and require further treatment. One approach to treatment includes daily medications used to prevent migraines from occurring. Reasonably,… … Continue reading Complementary and Alternative Therapies for Migraine Treatment
Avoiding Medication Overuse Headache – Primary Steps for Primary Care (3/28/2019) - Headaches are a common complaint to primary care offices. In children, headaches are frequently transient, related to concurrent illness, inadequate hydration, or other common lifestyle factors. Commonly, over-the-counter treatments (i.e. NSAIDs) are recommended for the treatment of acute headache. While this is often effective, for patients with more frequent headaches – the repeated use of pain medications can worsen the headache disorder and produce… … Continue reading Avoiding Medication Overuse Headache – Primary Steps for Primary Care
Testing for Success – Primary Steps for Primary Care (2/26/2019) - Hearing the word “neuropsychological” can make any child feel confused and scared. The idea of testing may also bring up unpleasant associations with school tests or painful shots. At Cook Children’s, our program is developed with kids in mind. Tests are introduced as “games,” and most children find them fun and entertaining. Pediatric neuropsychologists are trained to communicate with young patients and use prizes… … Continue reading Testing for Success – Primary Steps for Primary Care
Toe Walking – Primary Steps for Primary Care (1/9/2019) - Toe walking is one of the most common reasons for a primary care evaluation of abnormal gait. Neurologic etiologies of toe walking are common and most concerning for both parents and their doctors. There may be clues in the patient’s history or physical examination that can help the primary care provider in giving reassurance as well as determining the cause before referral. A toe… … Continue reading Toe Walking – Primary Steps for Primary Care
Transitioning to Adult Neurology Care (1/9/2019) - While “Primary Steps” articles are often written for primary care providers, some subjects are equally valuable to patients, their families and their speciality providers. Moving from a pediatric care provider to an adult care provider is likely to be very challenging for many patients – particularly those with special needs. Youth with neurologic conditions and their families often feel discouraged to work on long-term… … Continue reading Transitioning to Adult Neurology Care
Staring Spells – Primary Steps for Primary Care (11/6/2018) - Staring spells is a common chief complaint in pediatrics often noted by parents or teachers prompting evaluation. While absence seizures are certainly on the differential, staring can be many other things and careful history and evaluation is needed to guide evaluation and management. What is the differential of staring spells? Often times staring events in children represent transient inattention or daydreaming where the child… … Continue reading Staring Spells – Primary Steps for Primary Care
Headaches – Primary Steps for Primary Care (10/31/2018) - The start of the school year is just around the corner, and we frequently see an increase in calls regarding headaches around this time. We want to take this opportunity to review some basic steps in diagnosing and treating headaches. Nearly 10 percent of children have frequent or recurrent headaches. While this is a significant source of parental anxiety, the vast majority are benign… … Continue reading Headaches – Primary Steps for Primary Care
Febrile Seizures – Primary Steps for Primary Care (10/31/2018) - Febrile seizures are the most common seizure type in childhood, affecting 2-5 percent of children. These seizures are associated with a febrile illness in the absence of central nervous system infection or electrolyte imbalance, and they typically occur between the ages of 6 months and 5 years (peak 18 months). Most febrile seizures can be managed in a primary care setting. Below are answers… … Continue reading Febrile Seizures – Primary Steps for Primary Care
Tics – Primary Steps for Primary Care (10/31/2018) - Tics are repetitive, stereotyped, involuntary movements that usually begin in childhood. They can consist of motor and vocal tics, such as excessive eye blinking/rolling, facial grimacing, neck or shoulder jerks, sniffing, throat clearing or other vocalizations. Tics can be transient or chronic. If chronic, it may meet the criteria for Tourette syndrome. Tourette syndrome is defined as multiple motor and vocal tics that have… … Continue reading Tics – Primary Steps for Primary Care
Concussion – Primary Steps for Primary Care (10/8/2018) - A concussion is a trauma-related pathophysiological process that affects the neurometabolic function of the brain. Concussions are quite prevalent; the CDC reports 3.8 million sport-related brain injuries occur annually. It is estimated in middle school and high school children, up to 20% of children have suffered a concussion. In the majority of patients, post-concussive symptoms resolve within 10 days. By 1 month, 72% of… … Continue reading Concussion – Primary Steps for Primary Care
Chiari I Malformations – Primary Steps for Primary Care (10/8/2018) - Anxiety related to unexpected abnormal findings disclosed by imaging studies obtained during workup of headache or trauma is a frequent reason for referral to neurosurgery. A frequent incidental imaging finding is a Chiari I malformation, i.e., the presence of low-lying cerebellar tonsils, usually unaccompanied by other significant imaging findings. While the estimated prevalence of Chiari malformations is 1 per 1000 people, the overwhelming majority are asymptomatic.… … Continue reading Chiari I Malformations – Primary Steps for Primary Care